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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R +18 morecore Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication
Frontiers in Immunology, 2017 Immunodeficiency-associated vaccine-derived polioviruses (iVDPVs) have been isolated from primary immunodeficiency (PID) patients exposed to oral poliovirus vaccine (OPV).Asghar Aghamohammadi, Hassan Abolhassani, Necil Kutukculer, Steve G. Wassilak, Mark A. Pallansch, Samantha Kluglein, Jessica Quinn, Roland W. Sutter, Xiaochuan Wang, Ozden Sanal, Tatiana Latysheva, Aydan Ikinciogullari, Ewa Bernatowska, Irina A. Tuzankina, Beatriz T. Costa-Carvalho, Jose Luis Franco, Raz Somech, Elif Karakoc-Aydiner, Surjit Singh, Liliana Bezrodnik, Francisco J. Espinosa-Rosales, Anna Shcherbina, Yu-Lung Lau, Yu-Lung Lau, Shigeaki Nonoyama, Fred Modell, Vicki Modell, The JMF Centers Network Investigators and Study Collaborators, Mohamed-Ridha Barbouche, Mark A. McKinlay +29 moredoaj +1 more sourceCase Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome
Frontiers in Immunology, 2021 X-linked severe combined immunodeficiency (X-SCID) is caused by mutations of IL2RG, the gene encoding the interleukin common gamma chain (IL-2Rγ or γc) of cytokine receptors for interleukin (IL)-2, IL-4, IL-7, IL-9, IL-15, and IL-21.Brahim Belaid, Brahim Belaid, Lydia Lamara Mahammed, Lydia Lamara Mahammed, Aida Mohand Oussaid, Aida Mohand Oussaid, Melanie Migaud, Melanie Migaud, Yasmine Khadri, Jean Laurent Casanova, Jean Laurent Casanova, Jean Laurent Casanova, Jean Laurent Casanova, Anne Puel, Anne Puel, Anne Puel, Nafissa Ben Halla, Nafissa Ben Halla, Reda Djidjik, Reda Djidjik +19 moredoaj +1 more sourceMultiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB
Frontiers in Pediatrics, 2020 Background: Inhibitor of kappa kinase 2 (IKK2) deficiency is a recently described combined immunodeficiency. It undermines the nuclear factor-kappa B (NF-κB) activation pathway.Methods: The clinical and immunological data of four patients diagnosed with ...Zobaida Alsum, Mofareh S. AlZahrani, Hamoud Al-Mousa, Nouf Alkhamis, Abdulkareem A. Alsalemi, Hanan E. Shamseldin, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Abdullah A. Alangari +9 moredoaj +1 more sourceHIV Types, Groups, Subtypes and Recombinant Forms: Errors in Replication, Selection Pressure and Quasispecies [PDF]
, 2012 HIV-1 is a chimpanzee virus which was transmitted to humans by several zoonotic events resulting in infection with HIV-1 groups M P, and in parallel transmission events from sooty mangabey monkey viruses leading to infections with HIV-2 groups A H.Alvarez M, Batmanian J, Bocharov G, Brennan CA, Burgard M, Buzon MJ, Dahl V, Dai L, Domingo E, Duarte EA, Etienne L, Fang G, Fultz PN, Gunthard HF, Henriet S, Iordanskiy S, Josef Eberle, Julg B, Kijak GH, Korber B, Law M, Lemey P, Lorenzo-Redondo R, Lutz G. Gürtler, Motomura K, Neel C, Onafuwa-Nuga A, Pathak VK, Pathak VK, Rachinger A, Sauter D, Shimizu N, Simon-Loriere E, Smith DM, Sterjovski J, Swenson LC, Tienen C, Troyer JL, Van der Kuyl AC, Van der Vlist M, Zhu T +40 morecore +1 more sourceHuman RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases
Proceedings of the National Academy of Sciences of the United States of America, 2018 Significance RIPK1 is a key signaling molecule controlling inflammation and cell death. Molecular targeting of RIPK1 is considered to be an attractive therapeutic strategy for inflammatory diseases or autoimmunity.Yue Li, M. Führer, E. Bahrami, P. Socha, Maja Klaudel-Dreszler, A. Bouzidi, Yanshan Liu, Anna S. Lehle, T. Magg, Sebastian Hollizeck, M. Rohlfs, R. Conca, M. Field, N. Warner, S. Mordechai, E. Shteyer, D. Turner, R. Boukari, Réda Belbouab, C. Walz, Moritz M. Gaidt, V. Hornung, B. Baumann, U. Pannicke, Eman Al Idrissi, Hamza Ali Alghamdi, F. Sepulveda, Marine Gil, G. de Saint Basile, M. Hönig, S. Koletzko, A. Muise, S. Snapper, K. Schwarz, C. Klein, D. Kotlarz +35 moresemanticscholar +1 more sourceClinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review
Frontiers in Immunology, 2020 Background: Zeta-Chain Associated Protein Kinase 70 kDa (ZAP-70) deficiency is a rare combined immunodeficiency (CID) caused by recessive homozygous/compound heterozygous loss-of-function mutations in the ZAP70 gene.Niusha Sharifinejad, Niusha Sharifinejad, Mahnaz Jamee, Mahnaz Jamee, Majid Zaki-Dizaji, Bernice Lo, Mohammadreza Shaghaghi, Mohammadreza Shaghaghi, Hamed Mohammadi, Hamed Mohammadi, Farhad Jadidi-Niaragh, Farhad Jadidi-Niaragh, Shiva Shaghaghi, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi, Gholamreza Azizi +16 moredoaj +1 more sourceClearance of human papillomavirus related anal condylomas after oral and endorectal multistrain probiotic supplementation in an HIV positive male: A case report. [PDF]
, 2018 Go to:
Introduction:
Here we present the case of a 56-year-old human immunodeficiency virus (HIV)-infected man with multiple anal condylomas and positivity for human papilloma virus (HPV) 18 on anal brushing.Bianchi, L, Cavallari, En, Ceccarelli, G, Ciardi, A, D'Ettorre, G, Pierangeli, A, Savinelli, S, Vullo, F +7 morecore +1 more sourceHigh Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots
Frontiers in Immunology, 2018 Severe combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PID). T-cell receptor excision circle (TREC) copy number analysis is an efficient tool for population-based newborn screening (NBS) for SCID ...H. Al-Mousa, Ghadah Al-Dakheel, Amal Jabr, Fahd Elbadaoui, M. Abouelhoda, M. Baig, D. Monies, B. Meyer, A. Hawwari, M. Dasouki +9 moresemanticscholar +1 more sourceReciprocal control of viral infection and phosphoinositide dynamics
FEBS Letters, EarlyView.Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.Marie Déborah Bancilhon, Bruno Mesminwiley +1 more source